The NIHR BioResource Rare Diseases BRIDGE consortium sequencing projects
|Study ID||Alternative Stable ID||Type|
Study Datasets 4 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Whole exome sequencing BAM files and whole genome sequencing CRAM files for 722 individuals from the NIHR-BioResource Rare Diseases Consortium (SPEED project) with inherited retinal disease.
|Illumina HiSeq 2000||767|
SPEED - childhood dystonia KMT2B dataset
|Illumina HiSeq 2000||5|
Multiple primary tumors (MPT) affect a substantial proportion of cancer survivors and may result from various causes including inherited predisposition. Currently, germline genetic testing of MPT cases for cancer predisposition gene (CPG) variants is mostly targeted by tumor type. We ascertained pre-assessed MPT cases from genetics centers (defined as ≥2 primaries by age 60 years or ≥3 by 70) and performed whole genome sequencing (WGS) on 460 individuals from 440 families. Despite previous ... (Show More)
|Illumina HiSeq 2000||453|
|Illumina HiSeq 2000||4|